Abstract
Biobanks play a crucial role in "-Omics" research providing well-annotated samples to study major diseases, their pathways and mechanisms. Accordingly, there are major efforts worldwide to professionalize biobanks in order to provide high quality preservation and storage of biological samples with potentially greater scientific impact. Biobanks are an important resource to elucidate relevant disease mechanisms as well as to improve the diagnosis, prognosis, and treatment of both pediatric and adult cardiovascular disease. High-quality biological sample collections housed in specialized bio-repositories are needed to discover new genetic factors and molecular mechanisms of congenital heart disease and inherited cardiomyopathies in order to prevent the potential risk of having a fatal cardiac condition as well as to facilitate rational drug design around molecular diseases (personalized medicine). Biological samples are also required to improve the understanding the environmental mechanisms of heart disease (environmental cardiology). The goal of this paper is to focus on preanalytical issues (informed consent, sample type, time of collection, temperature and processing procedure) related to collection of biological samples for research purposes. In addition, the paper provides an overview of the efforts made recently by our Institute in designing and implementing a high-security liquid nitrogen storage system (-196°C). We described the implementations of reliable preservation technologies and appropriate quality control (the right temperature, the right environment, fully traceable with all possible back-up systems) in order to ensure maximum security for personnel as well as the quality and suitability of the stored samples.
Keywords: Nitrogen biobank, gene expression, congenital heart malformations, CVD, mRNA, DNA.
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